Comprehensive Centre of Expertise for
Rare and Undiagnosed Diseases
Driving research, care, and cure
A Comprehensive Centre of Expertise transforming rare disease care in NSW and beyond. Grounded in patient-centred, collaborative care, we reach for new heights of excellence through innovative diagnostic and therapeutic technologies and research partnerships. Our network of experts is dedicated to enhancing wellbeing of those affected by rare conditions across the whole lifetime.
SATB2 Associated Syndrome is a neurodevelopmental condition requiring intervention and support from multiple health professionals at any given time. Often our families face the unknowns and are challenged with referrals and reports that are expensive and difficult to secure and understand.
The rare disease population requires support from a multidisciplinary approach to treat the individual holistically and readily focus on the patient and family within mental health and other support services such as the NDIS within complex pathways and educational supports.
Professionals who have an interest and who specialise in rare conditions are an absolute key to the quality of life for these individuals, families, and their wider community.
Dalal Dawood Baumgartner
Founder and Principal Director, SATB2 Connect – and mum to Naomi who has SATB2-related condition
CASK is a rare genetic disorder that affects brain development and can be life-limiting. Angelina was diagnosed with CASK when she was 3 years old.
I remember sitting in a small room and being handed a two-page document about CASK, printed from the internet. At the time, I had never heard of it and only about fifty children worldwide were known to have it. It was such an isolating moment—so few answers, no treatment options, and no roadmap for what lay ahead.
One of the most incredible moments was when Angelina took her first steps. We were told she might never walk, so witnessing her defy those expectations was truly extraordinary.
Giovi Moschoudis
Founder, Angelina Cask Neurological Research Foundation – and mum to Angelina who has CASK-related condition